ClinVar Miner

Submissions for variant NM_004130.4(GYG1):c.614G>T (p.Gly205Val)

gnomAD frequency: 0.00004  dbSNP: rs763516254
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001877592 SCV002140960 uncertain significance Glycogen storage disease XV; Polyglucosan body myopathy type 2 2022-08-06 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 205 of the GYG1 protein (p.Gly205Val). This variant is present in population databases (rs763516254, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with GYG1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1373985). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV004040605 SCV004881936 uncertain significance Inborn genetic diseases 2021-08-16 criteria provided, single submitter clinical testing The c.614G>T (p.G205V) alteration is located in exon 6 (coding exon 6) of the GYG1 gene. This alteration results from a G to T substitution at nucleotide position 614, causing the glycine (G) at amino acid position 205 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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